Objective To investigate the disease-causing gene of Stargardt disease. Method Fifteen patients with Stargardt disease were analyzed with 11 primers of the 11 exons of ABCR gene by using PCR-SSCP and DNA direct sequencing techniques. Results Three newly detected disease-causing mutations were found. Among those mutations, one is a frameshift mutation and others are single base transition. Conclusion This research confirmed that ABCR gene is associated with Stargardt disease, and 3 new mutations of ABCR gene were found. (Chin J Ocul Fundus Dis,2000,16:240-243)
Epigenetics has been very hot in the research of biomedicine. In addition to genetic factors, the occurrence of a disease is also influenced by environmental factors. Retinal vascular diseases are a type of irreversible blind eye disease, such as age-related macular degeneration and diabetic retinopathy. The retinal vessel changes are the major features of retinal vascular diseases, which are the result of interaction of multiple environmental factors and genes. Epigenetic modification mainly includes DNA methylation, histone modification, and non-coding RNA regulation. Epigenetic mechanisms mediate the effects of environmental factors on genes related to retinal vascular diseases, and affect the eventual development of the diseases. Therefore, ophthalmologists should keep eyes close on the role of epigenetics in retinal vascular diseases, track the progress of epigenetic methods in the treatment of retinal vascular diseases, and pay attention to the application prospects of epigenetics. Finding the epigenetic regulators of these diseases can not only deepen the understanding of the pathological mechanism of these diseases, but also provide new ideas for the diagnosis and treatment of these diseases.